The variants below are all in the OPA1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change (cDNA) field when a variant has been reported more than once (in such cases fields other than the DNA change (cDNA) just belong to one entry and may differ for other entries).Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.At the bottom of this page a legend is provided with a short explanation of what each field contains.For a more detailed description of each field, please see the OPA1 full legend here.

eOPA1 identifier (obsolete):OA_00096; Nucleotide change: G to A at 6 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00045; Nucleotide change: G to T at 420 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect

eOPA1 identifier (obsolete):OA_00046; Nucleotide change: A to G at 473 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00047; Nucleotide change: G to C at 478 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00050; Nucleotide change: G to T at 556+178 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00049; Nucleotide change: T to C at 557-19 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00051; Nucleotide change: C to T at 575 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00261; Nucleotide change: Deletion of GACA at 631_634 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00028; Nucleotide change: Deletion of 2 nucleotides at 635_636 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00277; Nucleotide change: Deletion of AG at 638_639 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00082; Nucleotide change: A to T at 733 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00053; Nucleotide change: Intronic (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00100; Nucleotide change: C to T at 868 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00101; Nucleotide change: G to T at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00055; Nucleotide change: T to C at 870+32 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00056; Nucleotide change: A to G at 871-26 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00291; Nucleotide change: A to G at 803 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation de novo in proband, no family history of optic atrophy outside of proband

eOPA1 identifier (obsolete):OA_00098; Nucleotide change: G to A at 808 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00099; Nucleotide change: A to C at 818 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00285; Nucleotide change: Deletion of exon 9 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00275; Nucleotide change: Deletion of TGT at 876_878 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00019; Nucleotide change: G to A at 899 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00102; Nucleotide change: Deletion of C at 932 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

eOPA1 identifier (obsolete):OA_00262; Nucleotide change: Deletion of AT at 937_938 and insertion of GA (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature

Variants are described according to OPA1 transcript variant 8 (exons 4, 5/4b and 7/5b; RefSeq: NM_130837.2). In addition, in specific columns "/variant 1" and "/isoform 1", some mutations are described according to variant 1 (exon 4, not 5/4b and 7/5b; RefSeq: NM_015560.2) for historical reasons.